Format

Send to:

Choose Destination

C2orf88 chromosome 2 open reading frame 88 [ Homo sapiens (human) ]

Gene ID: 84281, updated on 7-Oct-2018

Summary

Official Symbol
C2orf88provided by HGNC
Official Full Name
chromosome 2 open reading frame 88provided by HGNC
Primary source
HGNC:HGNC:28191
See related
Ensembl:ENSG00000187699 MIM:615117; Vega:OTTHUMG00000154361
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
smAKAP
Expression
Broad expression in colon (RPKM 10.9), small intestine (RPKM 9.1) and 21 other tissues See more
Orthologs

Genomic context

See C2orf88 in Genome Data Viewer
Location:
2q32.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (189879479..190203484)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190744282..191068210)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ORMDL sphingolipid biosynthesis regulator 1 Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene Neighboring gene PMS1 homolog 1, mismatch repair system component Neighboring gene uncharacterized LOC105373796 Neighboring gene uncharacterized LOC105373795 Neighboring gene telomeric repeat binding factor 1 pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 2 Neighboring gene ring finger protein 11 pseudogene 1 Neighboring gene myostatin Neighboring gene uncharacterized LOC105373794 Neighboring gene 3-hydroxyisobutyryl-CoA hydrolase Neighboring gene inositol polyphosphate-1-phosphatase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

Description
Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
NHGRI GWA Catalog
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13057

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A regulatory subunit binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
small membrane A-kinase anchor protein
Names
small A-kinase anchoring protein
small membrane AKAP

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001042519.1NP_001035984.1  small membrane A-kinase anchor protein

    See identical proteins and their annotated locations for NP_001035984.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
    Source sequence(s)
    AC010679, BX648070, DA247977
    Consensus CDS
    CCDS42792.1
    UniProtKB/Swiss-Prot
    Q9BSF0
    Related
    ENSP00000345107.4, OTTHUMP00000205558, ENST00000340623.4, OTTHUMT00000334954
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  2. NM_001042520.1NP_001035985.1  small membrane A-kinase anchor protein

    See identical proteins and their annotated locations for NP_001035985.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AC010679, BX648070, DA389238
    Consensus CDS
    CCDS42792.1
    UniProtKB/Swiss-Prot
    Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  3. NM_001042521.1NP_001035986.1  small membrane A-kinase anchor protein

    See identical proteins and their annotated locations for NP_001035986.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AC010679, BU567236, BX648070
    Consensus CDS
    CCDS42792.1
    UniProtKB/Swiss-Prot
    Q9BSF0
    Related
    ENSP00000380172.2, OTTHUMP00000205557, ENST00000396974.2, OTTHUMT00000334953
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  4. NM_032321.2NP_115697.2  small membrane A-kinase anchor protein

    See identical proteins and their annotated locations for NP_115697.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AC010679, BC005083, BX648070
    Consensus CDS
    CCDS42792.1
    UniProtKB/Swiss-Prot
    Q9BSF0
    Related
    ENSP00000405225.2, OTTHUMP00000205559, ENST00000443551.2, OTTHUMT00000334955
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    189879479..190203484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511986.2XP_011510288.1  small membrane A-kinase anchor protein isoform X1

    See identical proteins and their annotated locations for XP_011510288.1

    UniProtKB/Swiss-Prot
    Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  2. XM_011511982.1XP_011510284.1  small membrane A-kinase anchor protein isoform X1

    See identical proteins and their annotated locations for XP_011510284.1

    UniProtKB/Swiss-Prot
    Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  3. XM_005246905.1XP_005246962.1  small membrane A-kinase anchor protein isoform X1

    See identical proteins and their annotated locations for XP_005246962.1

    UniProtKB/Swiss-Prot
    Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  4. XM_011511984.3XP_011510286.1  small membrane A-kinase anchor protein isoform X1

    See identical proteins and their annotated locations for XP_011510286.1

    UniProtKB/Swiss-Prot
    Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  5. XM_011511985.3XP_011510287.1  small membrane A-kinase anchor protein isoform X1

    See identical proteins and their annotated locations for XP_011510287.1

    UniProtKB/Swiss-Prot
    Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  6. XM_011511983.1XP_011510285.1  small membrane A-kinase anchor protein isoform X1

    See identical proteins and their annotated locations for XP_011510285.1

    UniProtKB/Swiss-Prot
    Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  7. XM_006712795.3XP_006712858.1  small membrane A-kinase anchor protein isoform X1

    See identical proteins and their annotated locations for XP_006712858.1

    UniProtKB/Swiss-Prot
    Q9BSF0
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
  8. XM_017005096.1XP_016860585.1  small membrane A-kinase anchor protein isoform X1

    UniProtKB/Swiss-Prot
    Q9BSF0
    Related
    ENSP00000386649.1, OTTHUMP00000205561, ENST00000409870.1, OTTHUMT00000334958
    Conserved Domains (1) summary
    pfam15127
    Location:194
    SmAKAP; Small membrane A-kinase anchor protein
Support Center